Submissions for variant NM_212482.4(FN1):c.638G>A (p.Cys213Tyr)

dbSNP: rs1559604072

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001796767	SCV003483363	pathogenic	not provided	2022-04-13	criteria provided, single submitter	clinical testing	This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 213 of the FN1 protein (p.Cys213Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with FN1-related conditions (PMID: 30599297; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 549707). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). For these reasons, this variant has been classified as Pathogenic.
CHU Sainte-Justine Research Center, University of Montreal	RCV000754909	SCV000787519	likely pathogenic	Spondylometaphyseal dysplasia	2018-05-09	no assertion criteria provided	research	6 Individuals with novel FN1 mutations and spondylometaphyseal dysplasia
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001796767	SCV002037270	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001796767	SCV002038224	uncertain significance	not provided		no assertion criteria provided	clinical testing